1. Panels
  2. Liver Failure_Paediatric
  3. ABCB4
STRs in panel
Prev Next
Regions in panel
Prev Next

Liver Failure_Paediatric

Gene: ABCB4

Green List (high evidence)
ABCB4 (ATP binding cassette subfamily B member 4)
EnsemblGeneIds (GRCh38): ENSG00000005471
EnsemblGeneIds (GRCh37): ENSG00000005471
OMIM: 171060, Gene2Phenotype
ABCB4 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene disease association.
Sources: Expert list
Created: 5 Nov 2020, 10:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 3, MIM# 602347

Publications

Created: 5 Nov 2020, 10:20 p.m.

Panel version: 0.111

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cholestasis, progressive familial intrahepatic 3, MIM# 602347
OMIM
171060
Clinvar variants
Variants in ABCB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcb4 has been classified as Green List (High Evidence).

5 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abcb4 has been classified as Green List (High Evidence).

5 Nov 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCB4 was added gene: ABCB4 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCB4 were set to 17726488 Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, MIM# 602347 Review for gene: ABCB4 was set to GREEN